Q8IZU3 (SYCP3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Synaptonemal complex protein 3
Short name=SCP-3

Gene names

Name:	SYCP3
Synonyms:	SCP3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	236 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Component of the transverse filaments of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Has an essential meiotic function in spermatogenesis. May be important for testis development. Required for efficient phosphorylation of HORMAD1 and HORMAD2 By similarity. Ref.4
Subunit structure	Interacts with SYCP2 By similarity.
Subcellular location	Nucleus By similarity. Chromosome By similarity. Note: In tripartite segments of synaptonemal complexes, irrespective of whether these are synapsed or unsynapsed By similarity.
Tissue specificity	Testis-specific. Ref.1 Ref.4
Post-translational modification	Phosphorylated By similarity.
Involvement in disease	Spermatogenic failure 4 (SPGF4) [MIM:270960]: An infertility disorder characterized by azoospermia, a condition of having no sperm present in the ejaculate. Testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4
Sequence similarities	Belongs to the XLR/SYCP3 family.

Ontologies

Keywords
Biological process	Cell cycle Cell division Meiosis
Cellular component	Chromosome Nucleus
Domain	Coiled coil
Ligand	DNA-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell division Inferred from electronic annotation. Source: UniProtKB-KW male meiosis I Non-traceable author statement PubMed 15218256. Source: UniProtKB spermatogenesis, exchange of chromosomal proteins Inferred from mutant phenotype Ref.4. Source: UniProtKB
Cellular_component	chromosome Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 236	236	Synaptonemal complex protein 3		PRO_0000229024
Regions
	Coiled coil	139 – 223	85	Potential
	Motif	88 – 91	4	Nuclear localization signal Potential
	Compositional bias	105 – 232	128	Gln-rich

Sequences

	Sequence		Length	Mass (Da)
	Q8IZU3 [UniParc]. Last modified March 1, 2003. Version 1. Checksum: D871B6AEA279ABDD	FASTA	236	27,729
	10 20 30 40 50 60 MVSSGKKYSR KSGKPSVEDQ FTRAYDFETE DKKDLSGSEE DVIEGKTAVI EKRRKKRSSA 70 80 90 100 110 120 GVVEDMGGEV QNMLEGVGVD INKALLAKRK RLEMYTKASL KTSNQKIEHV WKTQQDQRQK 130 140 150 160 170 180 LNQEYSQQFL TLFQQWDLDM QKAEEQEEKI LNMFRQQQKI LQQSRIVQSQ RLKTIKQLYE 190 200 210 220 230 QFIKSMEELE KNHDNLLTGA QNEFKKEMAM LQKKIMMETQ QQEIASVRKS LQSMLF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region." Martinez-Garay I., Jablonka S., Sutajova M., Steuernagel P., Gal A., Kutsche K. Genomics 80:259-267(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
[2]	"A notch-related gene located on the long arm of human chromosome 12." Adamah D.J.B., Gokhale P.J., Walsh J., Andrews P.W., Martinez Garay I., Kutsche K. Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[4]	"Azoospermia in patients heterozygous for a mutation in SYCP3." Miyamoto T., Hasuike S., Yogev L., Maduro M.R., Ishikawa M., Westphal H., Lamb D.J. Lancet 362:1714-1719(2003) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN SPGF4.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF492003 mRNA. Translation: AAN06611.1. AF517774 mRNA. Translation: AAP47204.1. BC062662 mRNA. Translation: AAH62662.1.
IPI	IPI00218078.
RefSeq	NP_001171419.1. NM_001177948.1. NP_001171420.1. NM_001177949.1. NP_710161.1. NM_153694.4.
UniGene	Hs.506504.
3D structure databases
ProteinModelPortal	Q8IZU3.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-59536N.
MINT	MINT-8303450.
STRING	9606.ENSP00000266743.
PTM databases
PhosphoSite	Q8IZU3.
Polymorphism databases
DMDM	74728444.
Proteomic databases
PaxDb	Q8IZU3.
PRIDE	Q8IZU3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000266743; ENSP00000266743; ENSG00000139351. ENST00000392924; ENSP00000376655; ENSG00000139351. ENST00000392927; ENSP00000376658; ENSG00000139351.
GeneID	50511.
KEGG	hsa:50511.
UCSC	uc001tiq.3. human.
Organism-specific databases
CTD	50511.
GeneCards	GC12M102105.
HGNC	HGNC:18130. SYCP3.
HPA	CAB032978.
MIM	270960. phenotype. 604759. gene.
neXtProt	NX_Q8IZU3.
Orphanet	217034. Male infertility with normal virilization due to meiosis defect.
PharmGKB	PA38298.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG27405.
HOGENOM	HOG000236293.
HOVERGEN	HBG100390.
InParanoid	Q8IZU3.
OMA	VFQQSRI.
OrthoDB	EOG4N8R5W.
PhylomeDB	Q8IZU3.
Enzyme and pathway databases
Reactome	REACT_111183. Meiosis. REACT_115566. Cell Cycle.
Gene expression databases
Bgee	Q8IZU3.
CleanEx	HS_SYCP3.
Genevestigator	Q8IZU3.
GermOnline	ENSG00000139351. Homo sapiens.
Family and domain databases
InterPro	IPR006888. Cor1/Xlr/Xmr. [Graphical view]
PANTHER	PTHR19368. PTHR19368. 1 hit.
Pfam	PF04803. Cor1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	50511.
NextBio	53082.
SOURCE	Search...

Entry information

Entry name

SYCP3_HUMAN

Accession

Primary (citable) accession number: Q8IZU3

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 21, 2006
Last sequence update:	March 1, 2003
Last modified:	May 29, 2013
This is version 87 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.